| Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry H Olbrich, K Häffner, A Kispert, A Völkel, A Volz, G Sasmaz, R Reinhardt, ... Nature genetics 30 (2), 143-144, 2002 | 671 | 2002 |
| Isolation of a novel gene underlying Batten disease, CLN3. TIBD Consortium. Cell 82 (6), 949-57, 1995 | 588* | 1995 |
| Primary ciliary dyskinesia: current state of the art A Bush, R Chodhari, N Collins, F Copeland, P Hall, J Harcourt, M Hariri, ... Archives of disease in childhood 92 (12), 1136-1140, 2007 | 497* | 2007 |
| Motile and non‐motile cilia in human pathology: from function to phenotypes HM Mitchison, EM Valente The Journal of pathology 241 (2), 294-309, 2017 | 472 | 2017 |
| Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ... Nature communications 6 (1), 8111, 2015 | 445 | 2015 |
| Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia L Bartoloni, JL Blouin, Y Pan, C Gehrig, AK Maiti, N Scamuffa, C Rossier, ... Proceedings of the National Academy of Sciences 99 (16), 10282-10286, 2002 | 424 | 2002 |
| Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities VH Castleman, L Romio, R Chodhari, RA Hirst, SCP de Castro, KA Parker, ... The American Journal of Human Genetics 84 (2), 197-209, 2009 | 375 | 2009 |
| Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry H Olbrich, M Schmidts, C Werner, A Onoufriadis, NT Loges, J Raidt, ... The American Journal of Human Genetics 91 (4), 672-684, 2012 | 343 | 2012 |
| Diagnosis and management of primary ciliary dyskinesia JS Lucas, A Burgess, HM Mitchison, E Moya, M Williamson, C Hogg Archives of disease in childhood 99 (9), 850-856, 2014 | 334 | 2014 |
| DYX1C1 is required for axonemal dynein assembly and ciliary motility A Tarkar, NT Loges, CE Slagle, R Francis, GW Dougherty, JV Tamayo, ... Nature genetics 45 (9), 995-1003, 2013 | 330 | 2013 |
| Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia HM Mitchison, M Schmidts, NT Loges, J Freshour, A Dritsoula, RA Hirst, ... Nature genetics 44 (4), 381-389, 2012 | 318 | 2012 |
| DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm NT Loges, H Olbrich, L Fenske, H Mussaffi, J Horvath, M Fliegauf, H Kuhl, ... The American Journal of Human Genetics 83 (5), 547-558, 2008 | 304 | 2008 |
| CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms JR Panizzi, A Becker-Heck, VH Castleman, DA Al-Mutairi, Y Liu, ... Nature genetics 44 (6), 714-719, 2012 | 298 | 2012 |
| MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia M Boon, J Wallmeier, L Ma, NT Loges, M Jaspers, H Olbrich, ... Nature communications 5 (1), 4418, 2014 | 269 | 2014 |
| An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015 | 264 | 2015 |
| An organelle-specific protein landscape identifies novel diseases and molecular mechanisms K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ... Nature communications 7 (1), 11491, 2016 | 258 | 2016 |
| Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ... The American Journal of Human Genetics 93 (5), 915-925, 2013 | 250 | 2013 |
| Spectrum of mutations in the Batten disease gene, CLN3 PB Munroe, HM Mitchison, AM O'Rawe, JW Anderson, RM Boustany, ... The American Journal of Human Genetics 61 (2), 310-316, 1997 | 248 | 1997 |
| Targeted disruption of the Cln3 gene provides a mouse model for Batten disease HM Mitchison, DJ Bernard, NDE Greene, JD Cooper, MA Junaid, ... Neurobiology of disease 6 (5), 321-334, 1999 | 242 | 1999 |
| Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia A Onoufriadis, T Paff, D Antony, A Shoemark, D Micha, B Kuyt, ... The American Journal of Human Genetics 92 (1), 88-98, 2013 | 224 | 2013 |
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